Extracellular serine/threonine protein kinase FAM20C

Al-Gazali LI et al. (2003) Further delineation of Raine syndrome.

Takeyari S et al. (2014) Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.

Faundes V et al. (2014) Raine syndrome: an overview.

Acevedo AC et al. (2015) Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.

Liu P et al. (2014) Inactivation of Fam20C in cells expressing type I collagen causes periodontal disease in mice.

Kinoshita Y et al. (2014) Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia.

Wang X et al. (2015) The specific role of FAM20C in dentinogenesis.

Vogel P et al. (2012) Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice.

Hao J et al. (2007) Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation.

Nalbant D et al. (2005) FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells.

Tagliabracci VS et al. (2012) Secreted kinase phosphorylates extracellular proteins that regulate biomineralization.

Fradin M et al. (2011) Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.

Simpson MA et al. (2009) Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

Simpson MA et al. (2007) Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

Hülskamp G et al. (2003) Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome.

Kingston HM et al. (1991) A new lethal sclerosing bone dysplasia.

NCBI article

OMIM.ORG article

Orphanet article

Wikipedia article